AutismKB 2.0

Annotation Detail for C1orf52


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Basic Information Top
Gene Symbol:C1orf52 ( FLJ44982,RP11-234D19.1,gm117 )
Gene Full Name: chromosome 1 open reading frame 52
Band: 1p22.3
Quick LinksEntrez ID:148423; OMIM: NA; Uniprot ID:CA052_HUMAN; ENSEMBL ID: ENSG00000162642; HGNC ID: 24871
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body2 / 7076128
blastocyst1 / 6231916
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult23 / 193912111
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal48 / 336030714
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain10 / 11009899
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye3 / 21105414
heart3 / 8962633
intestine0 / 2344720 
kidney4 / 21177718
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta2 / 2808257
prostate2 / 18934510
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P195037
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala9.61 ± 0.32
Basal Forebrain9.38 ± 0.17
Basal Part of Pons9.41 ± 0.12
Cerebellar Cortex9.13 ± 0.21
Cerebellar Nuclei9.12 ± 0.36
Claustrum9.83 ± 0.28
Epithalamus8.93 ± 0.51
Frontal Lobe9.58 ± 0.3
Globus Pallidus8.95 ± 0.54
Hypothalamus9.23 ± 0.31
Insula9.46 ± 0.21
Limbic Lobe9.76 ± 0.3
Mesencephalon9.41 ± 0.36
Myelencephalon9.41 ± 0.27
Occipital Lobe9.43 ± 0.35
Parietal Lobe9.43 ± 0.35
Pontine Tegmentum9.42 ± 0.33
Striatum9.51 ± 0.36
Subthalamus9.23 ± 0.39
Temporal Lobe9.52 ± 0.27
Thalamus9.45 ± 0.3
White Matter9.3 ± 0.51
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2410004B18RikCBCerebellum0.62
1.06
2410004B18RikCTXCerebral cortex0.72
1.05
2410004B18RikHIPHippocampal region0.43
0.48
2410004B18RikHPFHippocampal formation0.39
0.66
2410004B18RikHYHypothalamus0.41
0.28
2410004B18RikLSXLateral septal complex0.33
0.4
2410004B18RikMBMidbrain0.7
1.02
2410004B18RikMYMedulla1.16
1.22
2410004B18RikOLFOlfactory bulb1.1
2.8
2410004B18RikPPons0.96
0.96
2410004B18RikPALPallidum0.25
0.29
2410004B18RikRHPRetrohippocampal region0.35
0.96
2410004B18RiksAMYStriatum-like amygdalar nuclei0.2
0.29
2410004B18RikSTRStriatum0.24
0.27
2410004B18RikSTRdStriatum dorsal region0.15
0.21
2410004B18RikSTRvStriatum ventral region0.59
0.41
2410004B18RikTHThalamus0.32
0.31
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00081394 17 128 144 WSNIYEDNGDDAPQNAK Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018